ESC Genetic Testing Recommendations Address Sudden Cardiac Death Risk in Athletes

The European Society of Cardiology issued recommendations Friday for physicians, nurses, and allied health professionals on the use of genetic testing to prevent sudden cardiac death (SCD) in athletes and enable safe exercise.

Published in the European Journal of Preventive Cardiology, an accompanying statement indicated that up to 80% of athletes who die from SCD had no symptoms or family history of heart disease. High-level exercise can lead to electrical and structural cardiac remodelling which mimics inherited cardiac conditions (ICCs).

“​​Genetic studies over the last 30 years have identified many of the genetic variants that underpin ICCs and technological advances have transformed genetic testing to a more readily available and affordable clinical tool which may aid diagnosis, management, and prognosis,” noted researchers. “The role of genetic testing in the evaluation and management of athletes with suspected cardiac conditions is often unclear beyond the context of specialist cardiogenetics centers.”

Recommendations were split into 2 sections, with the first part providing guidance on the appropriate use of genetic testing in the assessment of athletes and the second part presenting common clinical scenarios in sports cardiology practice, outlining the diagnostic, prognostic, and therapeutic implications of such testing.

Study author Michael Papadakis, MBBS, MD, MRCP, FESC, senior lecturer in cardiology at St George’s, University of London, noted that genetic testing for potentially lethal variants is more accessible than ever before, but that athletes, especially professionals, should be counselled on the potential outcomes prior to evaluation since it could mean exclusion or restricted play.

Specific instances have occurred where an athlete may appear normal on clinical testing but has a family risk of a specific condition. In these cases, pre-test genetic counselling can assist the athlete in deciding whether to adhere to clinical monitoring annually to assess for signs of disease or to conduct genetic testing, which may have career-ending implications.

“Even if a genetic abnormality is found, recommendations on treatment and return to play usually depend on how severe the disease is clinically,” said Papadakis.

When such abnormalities are found, clinical evaluation will dictate the need for preventive therapy, he added, as well as advice on exercise and participation in competitive sports.

Use of genetic testing in notable ICCs of concern such as hypertrophic cardiomyopathy, the most common cause of SCD in athletes younger than 35 years of age, can be leveraged to determine risk of SCD and offer an exercise prescription, but its use will not impact management in most cases.

For other conditions such as long QT syndrome (LQTS), an inherited electrical fault of the heart, genetic testing can dictate management as identification of different genetic subtypes (LQT 1-3) can inform the risk of arrhythmias, identify potential triggers to be avoided, and help to target medical therapies and plan exercise advice.

“For instance, sudden immersion in cold water is more likely to cause life-threatening arrhythmias in LQT type 1 rather than types 2 or 3, so one should be more cautious with swimmers who have the type 1 genetic subtype than runners,” added Papadakis.

Along with pre-test counselling for genetic testing, post-test counselling was also recommended to address the potential psychosocial, financial, and mental health implications of results, particularly if testing determines that the athlete should be excluded from play. For child athletes, genetic counselling in an expert pediatric center with assistance from a child mental health specialist may be needed.

“Genetic testing in athletes may aid diagnosis, inform arrhythmic risk and prognosis, guide management, including informing athlete’s exercise prescription and ultimately facilitate safe ‘return to play’ to recreational or competitive sport,” concluded the study authors. “Appropriate pre- and post-test counselling will ensure that the athlete and all the stakeholders understand the potential implications of genetic testing in terms of ethical, legal, and financial repercussion,” concluded the study authors.

Reference

Castelletti S, Gray B, Basso C, et al. Indications and utility of cardiac genetic testing in athletes. Eur J Prev Cardiol. Published online June 17, 2022. doi:10.1093/eurjpc/zwac080